A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Carbohydrate-Deficient Transferrin in Serum: a New Marker of Potentially Harmful Alcohol Consumption Reviewed

Helena Stibler · Clinical Chemistry · 1991 · 655 citations

Alcohol Misuse, New Marker, Clinical Chemistry +16

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 361 citations

Mendelian Disorder, Genetic Disorder, Phosphomannomutase Gene +9

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Emile Van Schaftingen, Jaak Jaeken · FEBS Letters · 1995 · 357 citations

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, M Vanderschueren‐Lodeweyckx, Paul Casaer et al. · Pediatric Research · 1980 · 278 citations · Full text

Csf Protein, Mendelian Disorder, Autoimmune Disease +11

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text